A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239762



Internal ID22374518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22455302..22489774hg38UCSC Ensembl
Outerchr20:22435940..22470412hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg382099
hg192099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266377, nssv14266381, nssv14266379, nssv14266380, nssv14266383, nssv14266376, nssv14266375, nssv14266378, nssv14266382
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239762
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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